|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Emery-Dreifuss_muscular_dystrophy
Reducing body myopathy
Scapuloperoneal myopathy
X-linked myopathy with postural muscle atrophy
|
|
gptkbp:discoveredIn
|
1996
|
|
gptkbp:domain
|
gptkb:LIM_domain
|
|
gptkbp:encodes
|
FHL1 protein
|
|
gptkbp:Entrez_Gene_ID
|
2273
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
heart
high in skeletal and cardiac muscle
|
|
gptkbp:fullName
|
Four and a half LIM domains protein 1
|
|
gptkbp:function
|
protein-protein interaction
muscle development
transcriptional regulation
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
FHL1A
FHL1B
FHL1C
|
|
gptkbp:HGNC_ID
|
HGNC:3700
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
FHL1 gene
|
|
gptkbp:interactsWith
|
gptkb:LMNA
gptkb:ACTN2
gptkb:TCAP
MYBPC1
|
|
gptkbp:length
|
280 amino acids (FHL1A isoform)
|
|
gptkbp:locatedOnChromosome
|
X
Xq26.3
|
|
gptkbp:molecularWeight
|
32 kDa (FHL1A isoform)
|
|
gptkbp:mutationAssociatedWith
|
nonsense
missense
frameshift
splice site
|
|
gptkbp:numberOfExons
|
8
|
|
gptkbp:OMIM
|
300163
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Fhl1
|
|
gptkbp:proteinFamily
|
FHL family
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38
|
|
gptkbp:regulates
|
myogenesis
muscle cell differentiation
|
|
gptkbp:subcellularLocation
|
gptkb:nucleus
gptkb:cytoplasm
sarcomere
|
|
gptkbp:symbol
|
FHL1
|
|
gptkbp:UniProtID
|
Q13642
|
|
gptkbp:bfsParent
|
gptkb:Emery-Dreifuss_muscular_dystrophy
|
|
gptkbp:bfsLayer
|
7
|